Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion of SMN1 exons 7 and 8. However, exon 8 is retained in some cases, where SMN2 exon 7 recombines with SMN1 exon 8, forming a hybrid SMN gene. It remains unknown how the hybrid SMN gene contribute to the SMA phenotype.
Source: Brain and Development - Category: Neurology Authors: Emma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, Poh San Lai, Takenori Tozawa, Tomohiro Chiyonobu, Misaki Yamadera, Kentaro Okamoto, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Masakazu Shinohara Tags: Original article Source Type: research